PDB
MCID: PGT001
MIFTS: 74

Paget's Disease of Bone (PDB) malady

Bone diseases category

Summaries for Paget's Disease of Bone

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 46OMIM, 32MalaCards
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MedlinePlus:33 Paget's disease of bone causes your bones to grow too large and weak. they also might break easily. the disease can lead to other health problems, too, such as arthritis and hearing loss. you can have paget's disease in any bone, but it is most common in the spine, pelvis, skull, and legs. the disease might affect one or several bones, but not your entire skeleton. more men than women have the disease. it is most common in older people. no one knows what causes paget's disease. in some cases, a virus might be responsible. it tends to run in families. many people do not know they have paget's disease because their symptoms are mild. for others, symptoms can include pain enlarged bones broken bones damaged cartilage in joints doctors use blood tests and imaging tests to diagnose paget's disease. early diagnosis and treatment can prevent some symptoms from getting worse. treatments include medicines and sometimes surgery. a good diet and exercise might also help. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards: Paget's Disease of Bone, also known as paget disease of bone, is related to frontotemporal dementia and inclusion body myopathy with early-onset paget disease and frontotemporal dementia. An important gene associated with Paget's Disease of Bone is SQSTM1 (sequestosome 1), and among its related pathways are Osteoblast Signaling and Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. The drugs calcitonin and salmon calcitonin and the compounds hcc-1 and denosumab have been mentioned in the context of this disorder. Affiliated tissues include set of limbs, vertebral column and pelvis, and related mouse phenotypes are limbs/digits/tail and skeleton.

Disease Ontology:8 A bone formation disease that has material basis in hyperactive osteoclast which results in abnormal osteoblast bone formation located in skull, located in pelvis, located in vertebral column, located in set of limbs.

Genetics Home Reference:21 Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).

NIH Rare Diseases:42 Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. this condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. the disease may affect only one bone or several bones; but it does not affect the entire skeleton. bones with paget disease may break more easily, and the disease can lead to other health problems. the cause of paget disease is unknown, although it may be associated with faulty genes or viral infections early in life. last updated: 12/12/2011

Description from OMIM:46 602080

Aliases & Classifications for Paget's Disease of Bone

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


Aliases & Descriptions:

paget's disease of bone 8 21 33
paget disease of bone 9 42 20 21 46
osteitis deformans 8 42 22 21 60
osseous paget's disease 8 21
pdb 42 21
pagets disease of bone 10
paget's bone disease 8
paget disease, bone 21
pagets bone disease 44


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Disease Ontology8 DOID:5408
OMIM46 602080
NCIt39 C3292
ICD1025 M88

Related Diseases for Paget's Disease of Bone

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Paget's Disease of Bone family:

Paget Disease of Bone, Familial

Diseases related to Paget's Disease of Bone via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1frontotemporal dementia30.9VCP, SQSTM1
2inclusion body myopathy with early-onset paget disease and frontotemporal dementia30.7VCP
3paget disease, juvenile30.6CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
4mammary paget's disease30.5SQSTM1, VCP
5osteitis fibrosa30.2ALPP
6osteosclerosis30.2TNFSF11, TNFRSF11B, ALPP
7osteoporosis30.2CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, DKK1, ACP5
8prostate cancer30.2HSPB2, TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1, DKK1
9primary hyperparathyroidism30.1CALCA, ACP5, ALPP
10hyperparathyroidism30.1CALCA, TNFSF11, TNFRSF11B, ACP5, ALPP
11osteosarcoma30.1PDB2, TNFRSF11A, TNFSF11, TNFRSF11B, DKK1, ACP5
12hypophosphatasia30.0ALPP
13breast cancer30.0HSPB2, CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1
14dementia10.7
15myopathy10.7
16inclusion body myopathy with paget disease of bone and/or frontotemporal dementia10.5
17chromosomal disease10.3
18paget disease of bone, familial10.3
19angioid streaks10.3
20autosomal dominant disease10.3
21inclusion body myopathy with early-onset paget disease and frontotemporal dementia 110.3
22spastic paraplegia - paget disease of bone10.3
23iritis10.2
24prostate disease10.2
25prostatitis10.2
26retinitis10.2
27limb-girdle muscular dystrophy10.1
28bone osteosarcoma10.1
29muscular dystrophy10.1
30breast disease10.1
31osteonecrosis10.0ALPP
32root resorption10.0TNFRSF11B
33primary hyperoxaluria10.0TNFRSF11B
34anorexia nervosa10.0TNFRSF11B
35neuropathy10.0GNE, CALCA
36giant cell tumor10.0CALCA, TNFSF11
37hepatitis10.0ALPP
38giant cell reparative granuloma10.0CALCA, TNFRSF11A
39periodontitis10.0TNFRSF11B
40arthropathy10.0TNFRSF11B, TNFSF11
41osteopetrosis10.0TNFRSF11A, TNFSF11, TNFRSF11B
42leukemia10.0ALPP, ACP5
43hyperthyroidism10.0ACP5, ALPP
44thyroiditis10.0CALCA
45polyostotic osteolytic dysplasia, hereditary expansile10.0TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1
46blindness10.0OPTN
47osteomyelitis10.0TNFSF11, ACP5
48gingivitis10.0TNFSF11, TNFRSF11B, ALPP
49rickets10.0ACP5, ALPP
50multiple myeloma10.0TNFSF11, TNFRSF11B, DKK1

Graphical network of the top 20 diseases related to Paget's Disease of Bone:



Diseases related to paget's disease of bone

Clinical Features for Paget's Disease of Bone

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46OMIM
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Clinical features from OMIM:

602080

Clinical synopsis from OMIM:

602080

Drugs & Therapeutics for Paget's Disease of Bone

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Paget's Disease of Bone

Drug clinical trials:

Search ClinicalTrials for Paget's Disease of Bone

Search NIH Clinical Center for Paget's Disease of Bone

Search CenterWatch for Paget's Disease of Bone

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Paget's Disease of Bone

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20GeneTests, 22GTR
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Genetic tests related to Paget's Disease of Bone:

id Genetic test Affiliating Genes
1 Paget Disease of Bone20 TNFRSF11A
2 Osteitis Deformans22

Anatomical Context for Paget's Disease of Bone

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Paget's Disease of Bone:

32
Bone, Testes, Skin, Bone marrow, Prostate, Monocytes, Breast, Heart

FMA organs/tissues related to Paget's Disease of Bone:

14
Set of limbs, Vertebral column, Pelvis, Skull

Animal Models for Paget's Disease of Bone or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Paget's Disease of Bone:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.2ACP5, DKK1
2MP:00053909.9VCP, HSPB2, TNFRSF11A, TNFSF11, TNFRSF11B, DCSTAMP
3MP:00107689.8CALCA, GNE, TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1
4MP:00053879.6HSPB2, GNE, TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1

Publications for Paget's Disease of Bone

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Sources:
50PubMed
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Articles related to Paget's Disease of Bone:

(show top 50)    (show all 529)
idTitleAuthorsYear
1
Epidemiology of Paget's disease of bone: a systematic review and meta-analysis of secular changes. (23643679)
2013
2
Diagnosis and treatment of Paget's disease of bone: a mini-review. (24343625)
2013
3
Further evidence supporting a genetic background for Paget's disease of bone in Spain. (23350154)
2012
4
Normal bone turnover markers in a patient with active Paget's disease of bone: response to treatment with zoledronic acid. (22933168)
2012
5
Paget's disease of bone and calcium homeostasis: focus on bisphosphonate treatment. (21811962)
2011
6
Multiple giant cell tumors in maxilla and skull complicating Paget's disease of bone. (21319038)
2010
7
SPECT-CT improves the identification of Paget's disease of bone. (20483650)
2010
8
The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes. (20839008)
2010
9
Dickkopf-1 as a potential therapeutic target in Paget's disease of bone. (20055719)
2010
10
Paget's disease of bone and osteonecrosis. (19480105)
2009
11
Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone. (19049332)
2009
12
Sarcoma arising in Paget's disease of bone: declining incidence and increasing age at presentation. (19064007)
2009
13
Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family. (19578385)
2009
14
Differential gene expression in cultured osteoblasts and bone marrow stromal cells from patients with Paget's disease of bone. (17129176)
2007
15
Multicenter blinded analysis of RT-PCR detection methods for paramyxoviruses in relation to Paget's disease of bone. (17227218)
2007
16
Epidemiology, impact, management, and cost of Paget's disease of bone in France. (17254823)
2007
17
Biochemical assessment of Paget's disease of bone. (17229003)
2006
18
Protocol for stage 1 of the GaP study (Genetic testing acceptability for Paget's disease of bone): an interview study about genetic testing and preventive treatment: would relatives of people with Paget's disease want testing and treatment if they were available? (16762063)
2006
19
Subperiosteal ganglion associated with Paget's disease of bone. (15517248)
2005
20
Prevalence of Paget's disease of bone in Italy. (16160742)
2005
21
Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB). (15125799)
2004
22
Comparative responses of bone turnover markers to bisphosphonate therapy in Paget's disease of bone. (15207761)
2004
23
Pyrexia, pelvic pain and thrombocytopenia in an Asian man with Paget's disease of bone. (14681565)
2004
24
Risedronate and pamidronate treatment in the clinical management of patients with severe Paget's disease of bone and acquired resistance to bisphosphonates. (15148558)
2004
25
Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene. (12929927)
2003
26
Prospective study of pamidronate disodium in treatment of Paget's disease of bone]. (14642096)
2003
27
Diagnosis and treatment of Paget's disease of bone. (12046775)
2002
28
Osteoclasts in Paget's disease of bone. (11380387)
2001
29
MR imaging of pseudosarcoma in Paget's disease of bone: a report of two cases. (11357455)
2001
30
Consensus statement on the modern therapy of Paget's disease of bone from a Western Osteoporosis Alliance symposium. Biannual Foothills Meeting on Osteoporosis, Calgary, Alberta, Canada, September 9-10, 2000. (11354395)
2001
31
Enhanced RANK ligand expression and responsivity of bone marrow cells in Paget's disease of bone. (10862799)
2000
32
Long-term trends in the incidence of Paget's disease of bone. (10962355)
2000
33
Discussion: Newer bisphosphonates in the treatment of Paget's disease of bone: where we are and where we want to go. (10510218)
1999
34
Mouth bacteria as the cause of Paget's disease of bone. (10362279)
1999
35
Chondrosarcoma as a complicating factor in Paget's disease of bone. (9297756)
1997
36
Paget's disease of bone: clinical, pathogenetic and therapeutic aspects. (9222489)
1997
37
Pamidronate infusions for the treatment of Paget's disease of bone. (9064108)
1996
38
Biochemical and radiologic improvement in Paget's disease of bone treated with alendronate: a randomized, placebo-controlled trial. (8873503)
1996
39
Hearing loss in Paget's disease of bone: the relationship between pure-tone thresholds and mineral density of the cochlear capsule. (7607977)
1995
40
Comparative prospective, double-blind, multicenter study of the efficacy of tiludronate and etidronate in the treatment of Paget's disease of bone. (7779130)
1995
41
Bone histomorphometry and skeletal distribution of Paget's disease of bone. (8009229)
1994
42
Electron microscopic evidence of a viral nature for osteoclast inclusions in Paget's disease of bone. (7981909)
1994
43
Paget's disease of bone treated with a five day course of oral tiludronate. (8427515)
1993
44
Evaluation of the efficacy and safety of oral tiludronate in Paget's disease of bone. A double-blind, multiple-dosage, placebo-controlled study. (1642662)
1992
45
Etiology of Paget's disease of bone: a new perspective. (1617506)
1992
46
The articular manifestations of Paget's disease of bone. A case report. (1446446)
1992
47
Effects of five daily 1 h infusions of alendronate in Paget's disease of bone. (1549961)
1992
48
Paget's disease of bone. (1486297)
1992
49
Paget's disease of bone: exploring the questions. (1356605)
1992
50
Treatment of Paget's disease of bone with a combination of intranasal salmon calcitonin and oral calcium and thiazide. (1933580)
1991

Genetic Variations for Paget's Disease of Bone

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Paget's Disease of Bone:

62
id Symbol AA change Variation ID SNP ID
1SQSTM1p.Pro387LeuVAR_023592
2SQSTM1p.Pro392LeuVAR_023593rs104893941
3SQSTM1p.Ser399ProVAR_023594
4SQSTM1p.Met404ThrVAR_023595
5SQSTM1p.Met404ValVAR_023596
6SQSTM1p.Gly411SerVAR_023597
7SQSTM1p.Gly425ArgVAR_023598

Expression for genes affiliated with Paget's Disease of Bone

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Paget's Disease of Bone

Search GEO for disease gene expression data for Paget's Disease of Bone.

Pathways for genes affiliated with Paget's Disease of Bone

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Sources:
37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 29KEGG
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Pathways related to Paget's Disease of Bone according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3TNFRSF11B, TNFSF11
2
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
Hide members
10.3SQSTM1, TNFSF11, TNFRSF11A
3
Hide members
10.3TNFRSF11B, TNFSF11, TNFRSF11A
410.3TNFRSF11A, TNFSF11, ACP5
5
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
10.2CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
610.2ACP5, TNFRSF11B, TNFSF11, TNFRSF11A
7
Hide members
10.2TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1, ACP5
810.2ACP5, SQSTM1, TNFRSF11B, TNFSF11, TNFRSF11A

Compounds for genes affiliated with Paget's Disease of Bone

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Paget's Disease of Bone according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1hcc-14410.7TNFRSF11B, TNFSF11
2denosumab44 1111.7CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
3teriparatide44 1111.7CALCA, TNFSF11, TNFRSF11B
4polyethylene4410.7TNFRSF11A, TNFSF11, TNFRSF11B
5ibandronate44 1111.7CALCA, TNFSF11, TNFRSF11B
6etidronate4410.6CALCA, TNFRSF11B, ALPP
7ipriflavone4410.6ALPP, CALCA
8clodronate44 49 1112.6ACP5, TNFRSF11B, TNFSF11, CALCA
9vitamin k24410.6CALCA, TNFSF11, TNFRSF11B, ALPP
10strontium ranelate4410.6CALCA, TNFSF11
11pamidronate44 49 1112.6CALCA, TNFSF11, TNFRSF11B, ALPP
12tartrate4410.6CALCA, TNFSF11, ACP5, ALPP
13risedronate44 59 49 28 1114.6CALCA, TNFSF11, TNFRSF11B, ALPP
14pyridinoline4410.6ALPP, ACP5, TNFRSF11B, CALCA
15raloxifene44 28 49 1113.6CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
16zoledronic acid4410.6ALPP, TNFRSF11B, TNFSF11, CALCA
17alendronate44 49 1112.6CALCA, TNFSF11, TNFRSF11B, ALPP
18etidronic acid44 49 1112.6CALCA, ALPP
19titanium4410.6TNFSF11, TNFRSF11B, ACP5, ALPP
20pmma4410.6ALPP, ACP5, TNFRSF11B, TNFSF11, CALCA
21deoxypyridinoline4410.6CALCA, TNFSF11, TNFRSF11B, ACP5, ALPP
2225-hydroxyvitamin d4410.6CALCA, TNFSF11, TNFRSF11B, ACP5, ALPP
23phosphorus4410.6CALCA, TNFSF11, TNFRSF11B, ACP5, ALPP
24hydroxyproline44 11 2412.6ALPP, ACP5, TNFRSF11B, CALCA
2524,25-dihydroxyvitamin d34410.6ALPP, CALCA
26hydroxyapatite4410.5TNFRSF11A, TNFSF11, TNFRSF11B, ACP5, ALPP
27laccer4410.5TNFRSF11A, TNFSF11
28procollagen4410.5TNFSF11, TNFRSF11B, ACP5, ALPP
291,25 dihydroxy vitamin d34410.5CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, ACP5, ALPP
30calcitriol44 59 11 2413.5CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, ACP5, ALPP
31calcium carbonate4410.5CALCA, ALPP
32vitamin d4410.5CALCA, TNFSF11, TNFRSF11B, ACP5, ALPP
33creatinine4410.4HSPB2, TNFSF11, TNFRSF11B, ACP5, ALPP
34pge24410.4CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, ACP5, ALPP
35dexamethasone44 49 28 1113.4TNFSF11, TNFRSF11B, OPTN, ACP5, ALPP
36cyclosporin a44 28 5912.4CALCA, TNFSF11, TNFRSF11B, ACP5, ALPP
37gp 1304410.4TNFRSF11B, TNFSF11, TNFRSF11A
38sb 20358044 5911.4HSPB2, TNFSF11, TNFRSF11B, ALPP
39azathioprine44 49 2 1113.3TNFSF11, TNFRSF11B, ACP5
40vegf4410.3HSPB2, CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, ALPP
41hydrocortisone44 2 59 1113.3ALPP, TNFRSF11B, CALCA
42sodium fluoride4410.2ALPP, CALCA
43tyrosine4410.2HSPB2, UBFD1, TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1
44serine4410.0HSPB2, TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1, VCP
45calcium44 49 11 2412.6HSPB2, CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, ACP5

GO Terms for genes affiliated with Paget's Disease of Bone

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16Gene Ontology
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Biological processes related to Paget's Disease of Bone according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:07184810.5TNFRSF11A, TNFSF11
2monocyte chemotaxisGO:00254810.5TNFSF11, TNFRSF11A, CALCA
3TNFSF11-mediated signaling pathwayGO:07184710.5TNFRSF11A, TNFSF11
4osteoclast differentiationGO:03031610.5DCSTAMP, TNFSF11, TNFRSF11A
5positive regulation of fever generation by positive regulation of prostaglandin secretionGO:07181210.4TNFRSF11A, TNFSF11
6negative regulation of bone resorptionGO:04577910.4TNFRSF11B, CALCA
7bone resorptionGO:04545310.3ACP5, TNFSF11
8positive regulation of bone resorptionGO:04578010.2TNFSF11, DCSTAMP
9mammary gland alveolus developmentGO:06074910.1TNFSF11, TNFRSF11A

Products for genes affiliated with Paget's Disease of Bone

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Sources for Paget's Disease of Bone

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet